Canonical Allele Identifier: CA292793837
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs879079107
gnomAD v4: 17-61590761-C-A
COSMIC: COSM6336707
MyVariant Identifiers: chr17:g.59668122C>A (hg19) chr17:g.61590761C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590761C>A , CM000679.2:g.61590761C>A GRCh38
NC_000017.10:g.59668122C>A , CM000679.1:g.59668122C>A GRCh37
NC_000017.9:g.57022904C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.420G>T MANE Select ENSP00000427802.1:p.Ala140=
ENST00000521764.2:c.420G>T ENSP00000427802.1:p.Ala140=
NM_199290.3:c.420G>T NP_954984.1:p.Ala140=
NM_199290.4:c.420G>T MANE Select NP_954984.1:p.Ala140=
Search 100 bp 5'
Search 100 bp 3'